Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening
D'Annibale, Olivia M., Koppes, Erik A., Sethuraman, Meena, Bloom, Kaitlyn, Mohsen, Al‐Walid, Vockley, Jerry
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Journal Article
Mitochondrial dysfunction associated with TANGO2 deficiency
Heiman, Paige, Mohsen, Al-Walid, Karunanidhi, Anuradha, St Croix, Claudette, Watkins, Simon, Koppes, Erik, Haas, Richard, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Published in Scientific reports (23.02.2022)
Published in Scientific reports (23.02.2022)
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Journal Article
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
D'Annibale, Olivia M., Koppes, Erik A., Alodaib, Ahmad N., Kochersperger, Catherine, Karunanidhi, Anuradha, Mohsen, Al-Walid, Vockley, Jerry
Published in Molecular genetics and metabolism (01.09.2021)
Published in Molecular genetics and metabolism (01.09.2021)
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Journal Article
Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Koppes, Erik A, Johnson, Marie A, Moresco, James J, Luppi, Patrizia, Lewis, Dale W, Stolz, Donna B, Diedrich, Jolene K, Yates, 3rd, John R, Wek, Ronald C, Watkins, Simon C, Gollin, Susanne M, Park, Hyun Jung, Drain, Peter, Nicholls, Robert D
Published in PLoS genetics (01.04.2023)
Published in PLoS genetics (01.04.2023)
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Journal Article
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing
Koppes, Erik A, Redel, Bethany K, Johnson, Marie A, Skvorak, Kristen J, Ghaloul-Gonzalez, Lina, Yates, Megan E, Lewis, Dale W, Gollin, Susanne M, Wu, Yijen L, Christ, Shawn E, Yerle, Martine, Leshinski, Angela, Spate, Lee D, Benne, Joshua A, Murphy, Stephanie L, Samuel, Melissa S, Walters, Eric M, Hansen, Sarah A, Wells, Kevin D, Lichter-Konecki, Uta, Wagner, Robert A, Newsome, Joseph T, Dobrowolski, Steven F, Vockley, Jerry, Prather, Randall S, Nicholls, Robert D
Published in JCI insight (15.10.2020)
Published in JCI insight (15.10.2020)
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Journal Article
CHARACTERIZATION OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN VERY LONG-CHAIN ACYL-COA DEHYDROGENASE IDENTIFIED THROUGH NEWBORN SCREENING
Dannibale, Olivia, Sethuraman, Meena, Koppes, Erik, Mohsen, Al-Walid, Vockley, Jerry
Published in Molecular genetics and metabolism (01.04.2022)
Published in Molecular genetics and metabolism (01.04.2022)
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Journal Article
OP003: Characterization of variants of uncertain significance in very long-chain acyl-CoA dehyrogenase identified through newborn screening
D'Annibale, Olivia, Sethuraman, Meena, Koppes, Erik, Mohsen, Al-Walid, Vockley, Jerry
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
Klf14 is an imprinted transcription factor that regulates placental growth
Koppes, Erik, Shaffer, Ben, Sadovsky, Elena, Himes, Katherine, Barak, Yaacov, Sadovsky, Yoel, Chaillet, J. Richard
Published in Placenta (Eastbourne) (01.12.2019)
Published in Placenta (Eastbourne) (01.12.2019)
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Journal Article
Insulin secretion deficits in a Prader-Willi syndrome [beta]-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Koppes, Erik A, Johnson, Marie A, Moresco, James J, Luppi, Patrizia, Lewis, Dale W, Stolz, Donna B, Diedrich, Jolene K, Yates, John R, Wek, Ronald C, Watkins, Simon C, Gollin, Susanne M, Park, Hyun Jung, Drain, Peter, Nicholls, Robert D
Published in PLoS genetics (17.04.2023)
Published in PLoS genetics (17.04.2023)
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Journal Article
Conditional depletion of Fus in oligodendrocytes leads to motor hyperactivity and increased myelin deposition associated with Akt and cholesterol activation
Guzman, Kelly M., Brink, Lauren E., Rodriguez‐Bey, Guillermo, Bodnar, Richard J., Kuang, Lisha, Xing, Bin, Sullivan, Mara, Park, Hyun J., Koppes, Erik, Zhu, Haining, Padiath, Quasar, Cambi, Franca
Published in Glia (01.10.2020)
Published in Glia (01.10.2020)
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Journal Article
Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency
Vieira Neto, Eduardo, Wang, Meicheng, Szuminsky, Austin J, Ferraro, Lethicia, Koppes, Erik, Wang, Yudong, Van't Land, Clinton, Mohsen, Al-Walid, Zanatta, Geancarlo, El-Gharbawy, Areeg H, Anthonymuthu, Tamil S, Tyurina, Yulia Y, Tyurin, Vladimir A, Kagan, Valerian, Bayır, Hülya, Vockley, Jerry
Published in JCI insight (10.09.2024)
Published in JCI insight (10.09.2024)
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Journal Article
Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones
Koppes, Erik A, Johnson, Marie A, Moresco, James J, Luppi, Patrizia, Lewis, Dale W, Stolz, Donna B, Diedrich, Jolene K, Yates, John R, Wek, Ronald C, Watkins, Simon C, Gollin, Susanne M, Park, Hyun J, Drain, Peter, Nicholls, Robert D
Published in bioRxiv (18.06.2022)
Published in bioRxiv (18.06.2022)
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